Mutagenetix > Incidental Mutations

Incidental Mutation 'R4432:Dpp4'

328641

Institutional Source

Beutler Lab

Gene Symbol

Dpp4

Ensembl Gene

ENSMUSG00000035000

Gene Name

dipeptidylpeptidase 4

Synonyms

Dpp-4, THAM, Cd26

MMRRC Submission

041701-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62330073-62412231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62345112 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 660 (Y660H)

Ref Sequence

ENSEMBL: ENSMUSP00000044050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047812]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047812
AA Change: Y660H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: Y660H

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DPPIV_N	102	473	5.7e-110	PFAM
Pfam:Abhydrolase_5	545	752	1e-11	PFAM
Pfam:DLH	546	754	4e-7	PFAM
Pfam:Peptidase_S9	551	760	3.4e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156871

Meta Mutation Damage Score

0.8939

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show hypoglycemia, hyperinsulinemia, and increased plasma glucagon-like peptide 1 in glucose tolerance tests. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	T	8: 36,498,478	I51F	probably damaging	Het
Abca6	T	C	11: 110,241,588	M294V	probably benign	Het
Abcc5	A	T	16: 20,368,187		probably null	Het
Acsm4	A	C	7: 119,711,387	E499A	probably damaging	Het
Adamtsl4	T	C	3: 95,681,759		probably null	Het
Ank2	A	T	3: 126,947,806		probably benign	Het
Anks6	G	A	4: 47,044,905	Q334*	probably null	Het
Cadps2	T	A	6: 23,626,738	I155L	probably damaging	Het
Casp4	G	A	9: 5,323,653	R74H	probably damaging	Het
Cdk14	A	G	5: 5,036,427	W298R	probably damaging	Het
Chia1	A	G	3: 106,115,325	N12D	probably benign	Het
Cyp3a59	A	G	5: 146,104,786	D380G	probably benign	Het
Dnm2	T	C	9: 21,491,304		probably benign	Het
Dnm3	T	C	1: 161,991,997		probably benign	Het
Fam92b	C	A	8: 120,174,855	R37L	probably damaging	Het
H6pd	T	G	4: 149,995,758	Y202S	probably damaging	Het
Hnrnpa0	T	C	13: 58,127,937	K126R	probably benign	Het
Insc	C	T	7: 114,769,055		probably benign	Het
Lrrc45	G	A	11: 120,715,221		probably null	Het
Mapkap1	T	C	2: 34,619,863	L263P	probably damaging	Het
Nmur1	A	G	1: 86,387,565	S160P	probably damaging	Het
Olfr1254	A	T	2: 89,788,734	M206K	possibly damaging	Het
Olfr1288	T	A	2: 111,479,412	C209*	probably null	Het
Pcdhb15	A	G	18: 37,475,512	N599S	probably damaging	Het
Pcid2	T	C	8: 13,085,421	D196G	probably damaging	Het
Pcolce2	T	C	9: 95,681,557	F199L	probably damaging	Het
Phf11c	A	T	14: 59,390,935	N88K	possibly damaging	Het
Prl8a8	T	A	13: 27,510,480	Y109F	probably benign	Het
Rasa2	A	G	9: 96,542,407		probably benign	Het
Samhd1	T	C	2: 157,104,893	D558G	probably damaging	Het
Slc1a1	T	C	19: 28,902,709	F263S	probably benign	Het
Slc27a3	G	A	3: 90,387,340	T408M	probably damaging	Het
Slc4a7	T	A	14: 14,757,323	N520K	probably damaging	Het
Szt2	A	G	4: 118,384,231	S1679P	probably damaging	Het
Vmn1r218	T	C	13: 23,137,242	F173S	possibly damaging	Het
Vmn2r32	T	A	7: 7,479,919	N19Y	probably damaging	Het

Other mutations in Dpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Dpp4	APN	2	62379302	missense	probably damaging	1.00
IGL02205:Dpp4	APN	2	62352257	missense	probably damaging	1.00
IGL02276:Dpp4	APN	2	62356951	splice site	probably benign
IGL02335:Dpp4	APN	2	62334644	missense	probably benign	0.03
IGL02615:Dpp4	APN	2	62359328	missense	probably damaging	1.00
IGL02639:Dpp4	APN	2	62352240	missense	probably benign
IGL02972:Dpp4	APN	2	62352225	missense	probably damaging	1.00
IGL03366:Dpp4	APN	2	62356957	splice site	probably null
caribou	UTSW	2	62347901	missense	possibly damaging	0.69
PIT4449001:Dpp4	UTSW	2	62356644	missense	probably benign	0.00
R0502:Dpp4	UTSW	2	62364988	missense	probably damaging	0.99
R0581:Dpp4	UTSW	2	62356676	missense	probably benign
R1004:Dpp4	UTSW	2	62332640	missense	probably benign	0.08
R1075:Dpp4	UTSW	2	62352286	missense	probably benign	0.39
R1476:Dpp4	UTSW	2	62347901	missense	possibly damaging	0.69
R1702:Dpp4	UTSW	2	62386429	critical splice donor site	probably null
R1707:Dpp4	UTSW	2	62359335	splice site	probably benign
R1733:Dpp4	UTSW	2	62372869	critical splice acceptor site	probably null
R1899:Dpp4	UTSW	2	62345050	splice site	probably benign
R2264:Dpp4	UTSW	2	62378239	missense	possibly damaging	0.71
R2496:Dpp4	UTSW	2	62387133	missense	possibly damaging	0.90
R3765:Dpp4	UTSW	2	62386436	missense	probably benign	0.17
R4278:Dpp4	UTSW	2	62379323	missense	probably damaging	1.00
R4413:Dpp4	UTSW	2	62387140	missense	possibly damaging	0.89
R4647:Dpp4	UTSW	2	62334605	missense	probably damaging	1.00
R4710:Dpp4	UTSW	2	62360315	missense	probably benign	0.04
R4914:Dpp4	UTSW	2	62347892	missense	probably benign	0.20
R5173:Dpp4	UTSW	2	62387130	missense	probably damaging	1.00
R5283:Dpp4	UTSW	2	62360336	missense	probably damaging	1.00
R5698:Dpp4	UTSW	2	62334311	missense	probably damaging	1.00
R6621:Dpp4	UTSW	2	62352140	missense	probably damaging	1.00
R6681:Dpp4	UTSW	2	62348549	missense	probably benign	0.01
R6739:Dpp4	UTSW	2	62387095	missense	probably benign
R6962:Dpp4	UTSW	2	62372830	missense	probably benign	0.11
R7249:Dpp4	UTSW	2	62385203	missense	probably benign	0.14
R7268:Dpp4	UTSW	2	62347842	missense	probably damaging	1.00
R7343:Dpp4	UTSW	2	62358901	nonsense	probably null
R7357:Dpp4	UTSW	2	62387077	missense	probably benign
R7366:Dpp4	UTSW	2	62354599	missense	probably damaging	1.00
R7413:Dpp4	UTSW	2	62356989	missense	probably damaging	1.00
R7431:Dpp4	UTSW	2	62352238	missense	probably benign	0.01
R7642:Dpp4	UTSW	2	62360283	critical splice donor site	probably null
R7993:Dpp4	UTSW	2	62356611	splice site	probably null
R8004:Dpp4	UTSW	2	62358828	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGGAGTATCTCTAAACCACCTG -3'
(R):5'- ATGGGTCAATGCTGCAGAG -3'

Sequencing Primer
(F):5'- ATCTCTAAACCACCTGTGTTATTTC -3'
(R):5'- AGGAGCCTTCAGTCTGAGAGTG -3'

Posted On

2015-07-21